Gene: Cd274 MGI:1926446

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

CD274 antigen

Synonyms:

PD-L1, B7-H1, Pdcd1lg1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cd274 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Cd274 (0 diseases)
Human diseases predicted to be associated with Cd274 (588 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cd274 by phenotypic similarity.

Disease	Matching phenotypes	Source
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Antinuclea...	OMIM:613495
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased circulating antibody level	OMIM:235900
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti...	OMIM:618982
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Autoimmunity, T lymphocytopenia, Recurrent bacterial inf...	ORPHA:169079
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n...	OMIM:610163
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr...	OMIM:609529
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr...	OMIM:310350
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an...	OMIM:619220
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat...	OMIM:618459
Complement Component 6 Deficiency	Recurrent meningococcal disease, Reduced circulating CH50 activity, Decreased circulating complem...	OMIM:612446
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4...	OMIM:618495
Immunodeficiency 51	Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respiratory infections, Recurrent...	OMIM:613953
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Autoimmune Lymphoproliferative Syndrome	Antineutrophil antibody positivity, Rheumatoid factor positive, Platelet antibody positive, Reduc...	OMIM:601859
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio...	OMIM:616873
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C...	ORPHA:98813
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Complement Component 7 Deficiency	Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men...	OMIM:610102
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:607594
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ...	OMIM:618944
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib...	OMIM:616911
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ...	ORPHA:276
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Anti-thyroglobulin antibody p...	OMIM:618048
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia, Decreased...	OMIM:312863
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne...	OMIM:615401
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn...	OMIM:212050
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Complement Factor D Deficiency	Partial functional complement factor D deficiency, Recurrent bacterial infections	OMIM:613912
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec...	OMIM:607624
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect...	OMIM:616022
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs...	OMIM:608957
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D...	OMIM:300988
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ...	OMIM:608184
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy...	OMIM:618987
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphopenia, Hepatosplenomegaly, Ab...	ORPHA:331206
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Recurrent respiratory infections, Pancytopenia, Autoimmunity, Splenomegaly,...	OMIM:614470
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Complement Component 8 Deficiency, Type Ii	Decreased circulating complement C8 concentration, Meningitis, Recurrent Neisserial infections	OMIM:613789
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni...	ORPHA:277
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia...	ORPHA:572
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe...	ORPHA:2688
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob...	OMIM:300400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe...	OMIM:620632
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo...	OMIM:615206
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran...	OMIM:607676
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV...	OMIM:619437
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A...	OMIM:616636
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Autoimmune Lymphoproliferative Syndrome, Type Iia	Antiphospholipid antibody positivity, Increased circulating IgA level, Autoimmune thrombocytopeni...	OMIM:603909
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas...	OMIM:137100
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs...	OMIM:243700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin...	OMIM:615214
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Autoimmunity, Impaired lymphocyte transformation ...	OMIM:617006
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Decrease...	OMIM:615767
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide...	ORPHA:70593
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity...	ORPHA:90283
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Polyar...	OMIM:619281
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Immunodeficiency 48	Pneumocystis carinii pneumonia, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal ...	OMIM:269840
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Decreased lymphocyte proliferation in response to mitogen, Opp...	ORPHA:83471
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Recurrent bacterial inf...	OMIM:613779
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent infections, Decreased circulating IgG level, Decreased lymphocyte proliferation in resp...	ORPHA:169160
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Immune Thrombocytopenia	Thrombocytopenia, Platelet antibody positive	OMIM:188030
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections	OMIM:300299
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re...	ORPHA:911
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Selective Igm Deficiency	Rheumatoid arthritis, Systemic lupus erythematosus, Decreased proportion of CD8-positive T cells,...	ORPHA:331235
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr...	ORPHA:217390
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo...	OMIM:619846
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas...	OMIM:617241
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections	OMIM:619693
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,...	ORPHA:443811
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De...	OMIM:616098
Systemic Lupus Erythematosus 16	Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib...	OMIM:614420
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Immunodeficiency 27A	Rheumatoid factor positive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemi...	OMIM:209950
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low...	OMIM:308230
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Decreased speci...	OMIM:606367
Immunodeficiency 23	Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf...	OMIM:615816
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splenomegaly, Au...	ORPHA:444463
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity...	ORPHA:397596
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac...	OMIM:618108
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ...	OMIM:615468
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Pulmonary Nodular Lymphoid Hyperplasia	Autoimmune antibody positivity, Plasmacytosis	ORPHA:60026
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr...	OMIM:614069
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Sting-Associated Vasculopathy, Infantile-Onset	Rheumatoid factor positive, Recurrent respiratory infections, Lymphopenia, Leukopenia, Cytoplasmi...	OMIM:615934
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, A...	OMIM:301078
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Complement Factor H Deficiency	Recurrent bacterial infections, Decreased circulating complement factor H concentration, Depletio...	OMIM:609814
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
C1Q Deficiency 1	Decreased circulating complement factor I concentration, Recurrent infections, Autoimmunity, Syst...	OMIM:613652
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ...	OMIM:613179
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Autoimmun...	OMIM:617780
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Pa...	OMIM:307200
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac...	OMIM:614172
Immunodeficiency 19	Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Recu...	OMIM:615617
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia, Recurrent bacterial infections	ORPHA:86788
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous ...	OMIM:102700
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Immunodeficiency 32B	BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG lev...	OMIM:226990
Autosomal Dominant Severe Congenital Neutropenia	Antineutrophil antibody positivity, Recurrent viral infections, Aplastic anemia, Lymphopenia, Rec...	ORPHA:486
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease...	OMIM:616100
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Immunodeficiency 17	Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit...	OMIM:615607
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:615758
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ...	ORPHA:100024
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening...	OMIM:616740
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis, Autoimmunity	ORPHA:98827
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Reduced natural killer c...	OMIM:619752
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Recurrent lower respi...	ORPHA:183675
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Systemic lupus erythematosus, Leukopenia, Acute myeloid leukemia, Mo...	OMIM:616871
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Insulin Autoimmune Syndrome	Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating...	ORPHA:411593
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Fre...	OMIM:615577
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart...	ORPHA:85435
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Recurrent viral infections, Recurrent respiratory ...	OMIM:620532
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of...	OMIM:614878
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r...	OMIM:600802
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic a...	OMIM:620565
Eosinophilopenia	Decreased eosinophil count, Autoimmunity	OMIM:131430
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-...	ORPHA:231154
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Severe infection, Leukocytosis	ORPHA:206594
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positivity	ORPHA:90159
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle...	ORPHA:319552
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Neutropenia, Recurrent lower respir...	OMIM:300755
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Recurrent b...	OMIM:612840
Immunodeficiency 9	Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Hypoplasi...	OMIM:612782
Complement Factor B Deficiency	Recurrent bacterial infections, Decreased circulating complement factor B concentration, Recurren...	OMIM:615561
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Methicillin-resistant ...	OMIM:618282
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 6 concentration, Antinuclear antibody positivity, Increased cir...	OMIM:620514
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Schnitzler Syndrome	Leukocytosis, Skin rash, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Increas...	ORPHA:37748
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr...	OMIM:617475
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas...	OMIM:618116
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Autoimmunity, Splenomegal...	ORPHA:169090
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I...	ORPHA:85410
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent sinopulmonary in...	OMIM:616576
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233710
Juvenile Arthritis	Antinuclear antibody positivity, Leukocytosis, Thrombocytosis	OMIM:618795
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Alopecia Areata 1	Autoimmunity	OMIM:104000
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Bronchiectasis	OMIM:615139
Sneddon Syndrome	Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia	OMIM:182410
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:602450
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Antinuclear antibody positivity, In...	OMIM:617388
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233690
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Recurrent otitis media, Eosinophilia, Recurrent respiratory infe...	OMIM:618523
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon...	ORPHA:436159
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections...	OMIM:603585
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi...	OMIM:615387
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor necrosis factor s...	ORPHA:158061
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Papa Syndrome	Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Increased circula...	ORPHA:69126
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Recurre...	OMIM:608233
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Angiostrongyliasis	Unusual CNS infection, Hypereosinophilia, Increased circulating specific IgE antibody, Increased ...	ORPHA:74
Omenn Syndrome	Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu...	OMIM:603554
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re...	OMIM:116920
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoim...	ORPHA:760
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Generalized bone demineralization, Abnormal T cell morphology	OMIM:215250
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Autoimmune Hepatitis	Antineutrophil antibody positivity, Splenomegaly, Anti-liver cytosolic antigen type 1 antibody po...	ORPHA:2137
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Isolated Agammaglobulinemia	Sepsis, Recurrent respiratory infections, Abnormal lymphocyte morphology, Autoimmunity, Thrombocy...	ORPHA:229717
Systemic Lupus Erythematosus 17	Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukopenia, Anti...	OMIM:301080
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease, Reduced circulating CH50 activi...	OMIM:609536
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level, Recurrent skin infections	OMIM:617744
Wiskott-Aldrich Syndrome	Increased circulating IgE level, Abnormal delayed hypersensitivity skin test, Lymphopenia, Decrea...	OMIM:301000
Bone Marrow Failure And Diabetes Mellitus Syndrome	T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume, Pancytopenia, Anti-islet...	OMIM:620044
Thymoma	Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ...	ORPHA:99867
C3 Glomerulopathy	Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Recurrent infec...	ORPHA:329918
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Autoimmunity, Lymphocytosis	ORPHA:79087
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Hepatosplenomegaly, Decreased circulating antibody ...	OMIM:615952
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne...	ORPHA:33110
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Anti-liver cytosolic antigen type 1 antibody positivity, Antinuclear antibody positivi...	ORPHA:562639
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia,...	OMIM:242860
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Chronic m...	ORPHA:79124
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormality of tumor necrosi...	ORPHA:540
Prolidase Deficiency	Recurrent pneumonia, Systemic lupus erythematosus, Splenomegaly, Increased circulating antibody l...	OMIM:170100
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody positivity, ...	OMIM:620321
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i...	OMIM:306400
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Chilblains, Arthropathy, Thrombocytopenia, ...	OMIM:612952
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu...	OMIM:610984
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis	ORPHA:2582
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections	OMIM:618985
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo...	ORPHA:51636
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, Myositis, Arthritis, ...	OMIM:617591
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash, Agammaglobulinemia, Anemi...	ORPHA:47
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level, Colitis	OMIM:615190
Netherton Syndrome	Decreased circulating IgG level, Sepsis, Increased circulating IgE level, Recurrent infection of ...	OMIM:256500
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane...	OMIM:242840
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Complement Component C1R/C1S Deficiency	Autoimmunity	OMIM:216950
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Opportunistic infection, Cryptococcal meningitis, Lymphopenia, D...	ORPHA:90362
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Osteopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthrit...	ORPHA:227990
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur...	ORPHA:47612
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Tularemia	Brain abscess, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocyto...	ORPHA:3392
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Antiphospholipid antibody positiv...	ORPHA:90060
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop...	OMIM:612541
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis	OMIM:616069
Zika Virus Disease	Myelitis, Ankle swelling, Wrist swelling, Skin rash, Maculopapular exanthema, Infectious encephal...	ORPHA:448237
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A...	ORPHA:178320
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Autoimmunity, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypopla...	OMIM:243150
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Immunodeficiency 87 And Autoimmunity	Anticardiolipin IgG antibody positivity, Recurrent viral infections, Sepsis, Lymphopenia, Decreas...	OMIM:619573
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni...	OMIM:214500
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Osteopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthrit...	ORPHA:227982
Mirage Syndrome	Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurrent bacterial infectio...	OMIM:617053
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antiphospholipid antibody positi...	OMIM:152700
Ebola Hemorrhagic Fever	Sepsis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia	ORPHA:319218
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Increased circulating interleukin 10 concentration	OMIM:613759
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity	ORPHA:2902
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Pneumocystosis	Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Chronic oral candidiasis, Increased ...	ORPHA:723
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl...	OMIM:248500
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Abno...	ORPHA:167
Hypocomplementemic Urticarial Vasculitis	Reduced circulating complement concentration, Autoimmunity, Splenomegaly, Recurrent bacterial inf...	ORPHA:36412
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell...	OMIM:603903
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Postinfectious Vasculitis	Recurrent mycobacterial infections, Abnormality of humoral immunity, Invasive fungal infection, P...	ORPHA:48435
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Recurrent infections, Increased circulating IgA level, Neutropenia	OMIM:616395
Immunodeficiency 68	Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa...	ORPHA:3243
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lupus anticoagul...	OMIM:620376
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Pemphigus Vulgaris	Autoimmunity, Anti-desmoglein-1 antibody positivity, Anti-desmoglein-3 antibody positivity, Recur...	ORPHA:704
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos...	ORPHA:158057
Iga Pemphigus	Cutaneous abscess, Eosinophilia, Increased circulating IgA level, Monoclonal elevation of circula...	ORPHA:555905
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Hyper-Igd Syndrome	Recurrent infections, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Incr...	OMIM:260920
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent infections, Sepsis, Increased circulating IgE level, Autoimmunity, Autoimmune hemolytic...	ORPHA:37042
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Systemic lupus erythematosus, Leukopenia...	ORPHA:2298
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Decreased circulating IgA level, Anemia, Decreased circulating t...	OMIM:620040
Rift Valley Fever	Severe viral infection, Infectious encephalitis, Thrombocytopenia, Anemia, Increased circulating ...	ORPHA:319251
Tick-Borne Encephalitis	Unusual CNS infection, Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thr...	ORPHA:297
Bloom Syndrome	Decreased circulating IgG level, Severe varicella zoster infection, Recurrent tonsillitis, Recurr...	ORPHA:125
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Q Fever	Anticardiolipin IgG antibody positivity, Unusual infection, Granuloma, Antimitochondrial antibody...	ORPHA:781
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Recurrent viral infections, Aplastic anemia, Incr...	ORPHA:811
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Abnormal circulating interferon concentration, Incr...	ORPHA:544482
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po...	OMIM:258900
Kenny-Caffey Syndrome, Type 1	Anemia, Recurrent bacterial infections	OMIM:244460
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Autoimmunity	ORPHA:363558
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Osteomalacia, Recurrent otitis media, Recurrent s...	OMIM:619381
Inflammatory Pseudotumor Of The Liver	Autoimmune antibody positivity, Increased hepatitis B virus antibody level	ORPHA:90003
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Severe B lymphocytopenia, Recurrent otitis media, Abnormal lymphocyte morpho...	ORPHA:293978
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Increased circulating IgE level, Decreased proportion of CD8-pos...	ORPHA:508533
Febrile Infection-Related Epilepsy Syndrome	Autoimmunity	ORPHA:163703
Brucellosis	Granuloma, Rheumatoid factor positive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Inf...	ORPHA:1304
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Anemia, Increased circulating IgG level, Decreased...	ORPHA:29073
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai...	OMIM:614576
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Igg4-Related Kidney Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449395
Pemphigus Erythematosus	Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:542323
Vici Syndrome	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgG2 level, Recurren...	ORPHA:1493
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Minimal change glomerulonephritis, Shallow acetabular fossae, Abnorm...	ORPHA:1830
Igg4-Related Thyroid Disease	Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hashimoto...	ORPHA:64744
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia	OMIM:618398
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:179494
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Recurrent pneumonia, Antinuclear antibody positivity, Lymphocytos...	OMIM:617718
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Recurrent respiratory infections, Eosinophilia, Recurrent infect...	ORPHA:2314
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat...	ORPHA:1929
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly, Recurrent bro...	OMIM:617303
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Aspergillosis	Unusual CNS infection, Increased circulating IgE level, Invasive pulmonary aspergillosis, Infecti...	ORPHA:1163
Alg12-Cdg	Recurrent pneumonia, Sepsis, Abnormal circulating IgM level, Complete or near-complete absence of...	ORPHA:79324
Autoimmune Hemolytic Anemia, Warm Type	Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Chronic ly...	ORPHA:90033
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Recurrent respiratory infections, Hepatosplenomegaly, Elliptocyt...	OMIM:618278
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Dec...	ORPHA:90363
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,...	ORPHA:2968
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous ca...	ORPHA:391487
Netherton Syndrome	Increased circulating IgE level, Recurrent infections, Decreased circulating antibody level, Recu...	ORPHA:634
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Decreased circulating IgA level, Autoimmunity, Limited elbow extension, Pancytopenia, ...	OMIM:613385
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Anemia, Leukocytosis, Splenomegaly, Recurrent bacterial infections	OMIM:615895
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Reduced circulating complement concentration, ...	ORPHA:470
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Onychotrichodysplasia And Neutropenia	Recurrent infections, Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Linear Iga Dermatosis	Autoimmunity	ORPHA:46488
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus	ORPHA:90036
Coccidioidomycosis	Unusual CNS infection, Granuloma, Invasive fungal infection, Abnormality of the spleen, Abscess, ...	ORPHA:228123
Encephalitis Lethargica	Recurrent viral infections, Autoimmunity, Increased circulating antibody level	ORPHA:83600
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Polyarticu...	ORPHA:85436
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o...	ORPHA:85408
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, A...	ORPHA:79078
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Recurrent otitis media, Lymphopenia, Pancytop...	OMIM:615688
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Skin rash, Joint swelling, Splenomegaly, Arthritis, Juvenile rheumatoid arthritis, ...	ORPHA:85414
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Cystic Echinococcosis	Peritoneal abscess, Unusual infection, Invasive parasitic infection, Splenic cyst, Abscess, Incre...	ORPHA:400
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ...	OMIM:256040
Acquired Ichthyosis	Autoimmunity	ORPHA:454
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Autoimmunity...	ORPHA:228426
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai...	ORPHA:79329
Bullous Pemphigoid	Autoimmunity, Anti-BP230 antibody positivity, Anti-BP180 antibody positivity	ORPHA:703
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I...	ORPHA:289390
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Omenn Syndrome	Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Eosinophilia, Anemia	ORPHA:39041
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Delayed cranial sutu...	OMIM:620005
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni...	OMIM:607944
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level, Recurrent fractures	OMIM:606056
Anti-Glomerular Basement Membrane Disease	Anemia, Autoimmunity	ORPHA:375
Overlap Myositis	Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ...	ORPHA:206572
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ...	ORPHA:244
Celiac Disease, Susceptibility To, 1	Rickets, Eczematoid dermatitis, Decreased circulating IgA level, Recurrent aphthous stomatitis, M...	OMIM:212750
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration, Eosinophilia	ORPHA:449427
Sjogren Syndrome	Rheumatoid arthritis, Autoimmunity	OMIM:270150
Primary Biliary Cholangitis	Autoimmunity, Splenomegaly, Antinuclear antibody positivity, Recurrent fungal infections, Increas...	ORPHA:186
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Sepsis, Hepatosplenomegaly, Leukope...	ORPHA:505248
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Lassa Fever	Increased circulating IgM level, Sepsis	ORPHA:99824
Type 1 Diabetes Mellitus	Autoimmunity	OMIM:222100
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Thrombocyto...	ORPHA:79330
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection...	OMIM:607143
Cold Agglutinin Disease	Autoimmunity, Hemolytic anemia, Splenomegaly	ORPHA:56425
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly...	OMIM:181000
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczematoid dermatitis, Elbow contracture, Sclerosis of skull base, Delayed pub...	OMIM:618162
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc...	OMIM:147060
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	ORPHA:420741
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Decrease...	OMIM:210900
Glycogen Storage Disease Ib	Recurrent bacterial infections, Splenomegaly, Neutropenia	OMIM:232220
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ...	ORPHA:589
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Livedoid Vasculopathy	Polycythemia, Systemic lupus erythematosus, Pancytopenia, Autoimmunity, Leukocytosis, Lupus antic...	ORPHA:542643
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function	OMIM:201100
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Gaucher Disease Type 1	Splenic infarction, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, In...	ORPHA:77259
Rheumatoid Arthritis	Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo...	OMIM:180300
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Antinuclear antibody positivity, Eosinophilia, Increased circula...	ORPHA:449563
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Recur...	ORPHA:77261
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma concentra...	OMIM:301220
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Pa...	ORPHA:1855
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Increased c...	ORPHA:99827
Interstitial Cystitis	Abnormality of tumor necrosis factor secretion	ORPHA:37202
Limited Cutaneous Systemic Sclerosis	Autoimmunity	ORPHA:220402
Bronchiolitis Obliterans	Autoimmunity	ORPHA:1303
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Increased circulating antibody level	ORPHA:86816
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration	ORPHA:69665
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive	ORPHA:79099
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Severe B lymphocytopenia, Eczematoid dermatitis, Contracture of the dis...	ORPHA:83617
Dermatitis Herpetiformis	Microcytic anemia, Autoimmunity	ORPHA:1656
Alopecia Totalis	Autoimmunity	ORPHA:700
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Decreased circulating IgA level, Recurrent infe...	OMIM:223370
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Recurrent infections	OMIM:601675
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Recurrent respiratory infections	OMIM:615508
Trisomy X	Autoimmunity	ORPHA:3375
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Anemia, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Recurrent bacterial infections	ORPHA:79259
Preeclampsia	Autoimmunity, Thrombocytopenia	ORPHA:275555
Pediatric-Onset Graves Disease	Autoimmunity, Splenomegaly, Anti-thyroid peroxidase antibody positivity, Thrombocytopenia, Neutro...	ORPHA:525731
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration	OMIM:608068
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Autoimmunity	ORPHA:91354
Japanese Encephalitis	Infectious encephalitis, Increased circulating antibody level, Neutrophilia, Meningitis, Increase...	ORPHA:79139
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology...	ORPHA:284
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus eryth...

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